mitochondrial complex I deficiency, nuclear type 31
MONDO:0032634Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 31 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 3 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 3 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 2 of 3 reported patients
- DysmetriaHPOHP:0001310
- 1 of 3 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 1 of 3 reported patients
- MyoclonusHPOHP:0001336
- 1 of 3 reported patients
- NystagmusHPOHP:0000639
- 1 of 3 reported patients
- Peripheral neuropathyHPOHP:0009830
- 1 of 3 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 3 reported patients
Show the remaining 4
- SeizureHPOHP:0001250
- 1 of 3 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 3 reported patients
- Progressive neurologic deteriorationHPOHP:0002344
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TIMMDC1HGNC:1321
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Illumina · Autosomal recessive · 2020